Epigenetic Immune Cell Quantification Helps to Reduce Unnecessary Recalls after SCID Screening

Sep 2022

As described previously (Blom et al., 2021), epigenetic quantification of CD3+ T-cells in dried blood spot (DBS) samples from newborns can reduce the rate of false-positive referrals after screening for Severe Combined Immunodeficiency (SCID) using the T-Cell Receptor Excision Circle (TREC) screening assay.

In collaboration with the newborn screening lab at the University Hospital Hamburg-Eppendorf (Germany) we have shown that epigenetic quantification of CD3+T, CD19+B and CD16+ NK lymphocytes can reduce the number of “unnecessary recalls” after TREC screening by as much as 65%.

Unnecessary recalls means newborns that were recalled for a second screening card after a suspicious TREC finding and that turned out to be normal after the repeat analysis. In the cohort of 72 unnecessary recalls, epigenetic analysis identified 47 samples as normal in the first screening card .

At the same time, all 5 true positive SCID cases included in the cohort were correctly identified (manuscript in preparation).

Epimune launched i.Mune NEO (CE) earlier this year that allows the epigenetic quantifiction of T-, B- and NK lymphocytes from newborn dried blood spot samples.